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Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
- Source :
- BMJ Case Rep
- Publication Year :
- 2022
-
Abstract
- X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by theSLC6A8gene on Xq28. We here report a 3-year-old boy with global developmental delay, autism and epilepsy. He had a normal MRI of the brain. Brain magnetic resonance spectroscopy (MRS) subsequently showed an abnormally small creatine peak. His high urine creatine/creatinine ratio further suggested the diagnosis, later confirmed by hemizygous mutation detected in theSLC6A8gene. His mother was also heterozygous for the same mutation. Supplementation with creatine monohydrate, arginine, and glycine (precursors of creatine) and supportive therapies, resulted in modest clinical improvement after 12 months. This case highlights the importance of doing MRS for boys with global delay/intellectual disability, autism and epilepsy even with a normal MRI of the brain, to pick up a potentially treatable cause.
- Subjects :
- Male
medicine.medical_specialty
Magnetic Resonance Spectroscopy
Arginine
Nerve Tissue Proteins
Case Report
Creatine
Plasma Membrane Neurotransmitter Transport Proteins
chemistry.chemical_compound
Epilepsy
Internal medicine
Intellectual Disability
Intellectual disability
medicine
Humans
Global developmental delay
Autistic Disorder
Hemizygote
Creatinine
business.industry
Brain Diseases, Metabolic, Inborn
General Medicine
medicine.disease
Endocrinology
chemistry
Child, Preschool
Mutation
Mental Retardation, X-Linked
Autism
Creatine Monohydrate
business
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 13
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....cb74c7e3b5f5379c43ff3b996ee2af56